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Table 1 Clinical characteristics of a cohort of CAH-X and CAH patients and carriers

From: Measurement of serum tenascin-X in patients with congenital adrenal hyperplasia at risk for Ehlers–Danlos contiguous gene deletion syndrome CAH-X

  Monoallelic
CAH-X CH-1 (n = 16)a
Monoallelic
CAH-X CH-2 (n = 13)
Biallelic
CAH-X (n = 3)
CAH-X carrier
Relatives (n = 16)
CAH only (n = 70)
Age, years (range) 23.1 ± 10.5 (4–38) 23.2 ± 15.5 (5–43) 21.3 ± 7.6 (14–29) 49.4 ± 16.2 (20–74) 25.7 ± 14.9 (2–68)
Female 8 (50.0) 7 (53.8) 0 (0) 10 (62.5) 43 (61.4)
Generalized hypermobilityb 6 (42.9)
(n = 14)e
6 (46.2) 3 (100) 3 (20)
(n = 15)e
6 (12.2)
(n = 49)e
Subluxations 6 (40.0) 5 (38.5) 2 (66.7) 1(6.7)
(n = 15)e
12 (17.1)
Chronic arthralgia 5 (31.3) 4 (30.8) 1 (33.3) 7 (43.8) 2 (2.8)
Chronic tendonitis 2 (12.5) 4 (30.8) 0 (0) 3 (20)
(n = 15)e
2 (2.8)
Hyperextensible skin 2 (12.5) 7 (53.8) 3 (100) 0 (0)
(n = 15)e
0 (0)
Wide scars 3 (18.8) 2 (15.4) 2 (66.7) 0 (0)
(n = 15)e
0 (0)
Easy bruising 5 (31.3) 4 (30.8) 3 (100) 1 (6.7)
(n = 15)e
0 (0)
Poor wound healing 0 (0) 0 (0) 1 (33.3) 0 (7.1)
(n = 15)e
0 (0)
Gastrointestinal disorderc 1 (6.3) 4 (30.8) 1 (33.3) 0 (0)
(n = 15)e
4 (5.7)
Hernia or rectal prolapse 0 (0) 3 (23.1) 2 (66.7) 1 (6.7)
(n = 15)e
1 (1.4)
Congenital cardiac defectd 3 (18.8) 3 (23.1) 0 (0) 3 (20.0)
(n = 15)e
0 (0)
Cardiac chamber enlargement 2 (14.3)
(n = 14)e
0 (0)
(n = 10)e
2 (66.7) 4 (26.7)
(n = 15)e
1 (2.9)
(n = 35)e
Enlarged aortic root 0 (0)
(n = 14)e
2 (20)
(n = 10)e
0 (0) 2 (13.3)
(n = 15)e
0 (0)
(n = 34)e
  1. Values are numbers with percentages in parentheses or mean ± standard deviation
  2. aOne patient omitted due to lack of clinical data
  3. bGeneralized hypermobility defined as a Beighton score of 4 of 9 or above for those > 50 years of age, 5 of 9 or above for post pubertal adolescents and adults, and 6 of 9 or above for children [13]
  4. cGastrointestinal chronic disorder included irritable bowel syndrome and gastroesophageal reflux disease
  5. dCardiac congenital disorder included left ventricular diverticulum, patent foramen ovale, or a structural valve abnormality
  6. eValues adjusted for missing data